JAK2 c.2048G>C ;(p.R683T)

Variant ID: 9-5078361-G-C

NM_004972.3(JAK2):c.2048G>C;(p.R683T)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: JAK2: R683T
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc4.xlsx, sheet 19
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Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.

Leukemia
Schwab, Claire C; Cranston, Ruth E RE; Ryan, Sarra L SL; Butler, Ellie E; Winterman, Emily E; Hawking, Zoe Z; Bashton, Matthew M; Enshaei, Amir A; Russell, Lisa J LJ; Kingsbury, Zoya Z; Peden, John F JF; Barretta, Emilio E; Murray, James J; Gibson, Jude J; Hinchliffe, Andrew C AC; Bain, Robert R; Vora, Ajay A; Bentley, David R DR; Ross, Mark T MT; Moorman, Anthony V AV; Harrison, Christine J CJ
Publication Date: 2022-12-22

Variant appearance in text: JAK2: R683T
PubMed Link: 36550215
Variant Present in the following documents:
  • 41375_2022_1799_MOESM1_ESM.pdf
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RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL).

Plos Genetics
Rehn, Jacqueline J; Mayoh, Chelsea C; Heatley, Susan L SL; McClure, Barbara J BJ; Eadie, Laura N LN; Schutz, Caitlin C; Yeung, David T DT; Cowley, Mark J MJ; Breen, James J; White, Deborah L DL
Publication Date: 2022-10

Variant appearance in text: JAK2: R683T
PubMed Link: 36251721
Variant Present in the following documents:
  • Main text
  • pgen.1010300.pdf
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JAK2 Alterations in Acute Lymphoblastic Leukemia: Molecular Insights for Superior Precision Medicine Strategies.

Frontiers In Cell And Developmental Biology
Downes, Charlotte Ej CE; McClure, Barbara J BJ; McDougal, Daniel P DP; Heatley, Susan L SL; Bruning, John B JB; Thomas, Daniel D; Yeung, David T DT; White, Deborah L DL
Publication Date: 2022

Variant appearance in text: JAK2: R683T
PubMed Link: 35903543
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.

Blood Advances
Tran, Thai Hoa TH; Langlois, Sylvie S; Meloche, Caroline C; Caron, Maxime M; Saint-Onge, Pascal P; Rouette, Alexandre A; Bataille, Alain R AR; Jimenez-Cortes, Camille C; Sontag, Thomas T; Bittencourt, Henrique H; Laverdière, Caroline C; Lavallée, Vincent-Philippe VP; Leclerc, Jean-Marie JM; Cole, Peter D PD; Gennarini, Lisa M LM; Kahn, Justine M JM; Kelly, Kara M KM; Michon, Bruno B; Santiago, Raoul R; Stevenson, Kristen E KE; Welch, Jennifer J G JJG; Schroeder, Kaitlin M KM; Koch, Victoria V; Cellot, Sonia S; Silverman, Lewis B LB; Sinnett, Daniel D
Publication Date: 2022-02-22

Variant appearance in text: JAK2: R683T
PubMed Link: 34933343
Variant Present in the following documents:
  • advancesADV2021005634-suppl1.xlsx, sheet 3
  • advancesADV2021005634-suppl1.xlsx, sheet 1
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Genetic and genomic analysis of acute lymphoblastic leukemia in older adults reveals a distinct profile of abnormalities: analysis of 210 patients from the UKALL14 and UKALL60+ clinical trials.

Haematologica
Creasey, Thomas T; Barretta, Emilio E; Ryan, Sarra L SL; Butler, Ellie E; Kirkwood, Amy A AA; Leongamornlert, Daniel D; Papaemmanuil, Elli E; Patrick, Pip P; Clifton-Hadley, Laura L; Patel, Bela B; Menne, Tobias T; McMillan, Andrew K AK; Harrison, Christine J CJ; Rowntree, Clare J CJ; Morley, Nick N; Marks, David I DI; Fielding, Adele K AK; Moorman, Anthony V AV
Publication Date: 2022-09-01

Variant appearance in text: JAK2: R683T
PubMed Link: 34788984
Variant Present in the following documents:
  • Main text
  • 1072051.pdf
View BVdb publication page



Janus Kinase Signaling: Oncogenic Criminal of Lymphoid Cancers.

Cancers
Li, Boheng B; Wan, Qin Q; Li, Zhubo Z; Chng, Wee-Joo WJ
Publication Date: 2021-10-14

Variant appearance in text: JAK2: R683T
PubMed Link: 34680295
Variant Present in the following documents:
  • Main text
  • cancers-13-05147.pdf
View BVdb publication page



Clinical application of whole transcriptome sequencing for the classification of patients with acute lymphoblastic leukemia.

Bmc Cancer
Walter, Wencke W; Shahswar, Rabia R; Stengel, Anna A; Meggendorfer, Manja M; Kern, Wolfgang W; Haferlach, Torsten T; Haferlach, Claudia C
Publication Date: 2021-08-02

Variant appearance in text: JAK2: 2048G>C
PubMed Link: 34340673
Variant Present in the following documents:
  • 12885_2021_8635_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: JAK2: R683T
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: JAK2: 2048G>C; R683T
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Publication Date: 2018-07-27

Variant appearance in text: JAK2: R683T
PubMed Link: 30053901
Variant Present in the following documents:
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
  • 13073_2018_564_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget
Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J
Publication Date: 2018-05-29

Variant appearance in text: JAK2: 2048G>C; R683T
PubMed Link: 29899868
Variant Present in the following documents:
  • oncotarget-09-26417-s005.xlsx, sheet 1
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: JAK2: R683T
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 7
View BVdb publication page



JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia.

Oncotarget
Steeghs, Elisabeth M P EMP; Jerchel, Isabel S IS; de Goffau-Nobel, Willemieke W; Hoogkamer, Alex Q AQ; Boer, Judith M JM; Boeree, Aurélie A; van de Ven, Cesca C; Koudijs, Marco J MJ; Besselink, Nicolle J M NJM; de Groot-Kruseman, Hester A HA; Zwaan, Christian Michel CM; Horstmann, Martin A MA; Pieters, Rob R; den Boer, Monique L ML
Publication Date: 2017-10-27

Variant appearance in text: JAK2: R683T
PubMed Link: 29163799
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence and detection of low-allele-fraction variants in clinical cancer samples.

Nature Communications
Shin, Hyun-Tae HT; Choi, Yoon-La YL; Yun, Jae Won JW; Kim, Nayoung K D NKD; Kim, Sook-Young SY; Jeon, Hyo Jeong HJ; Nam, Jae-Yong JY; Lee, Chung C; Ryu, Daeun D; Kim, Sang Cheol SC; Park, Kyunghee K; Lee, Eunjin E; Bae, Joon Seol JS; Son, Dae Soon DS; Joung, Je-Gun JG; Lee, Jeeyun J; Kim, Seung Tae ST; Ahn, Myung-Ju MJ; Lee, Se-Hoon SH; Ahn, Jin Seok JS; Lee, Woo Yong WY; Oh, Bo Young BY; Park, Yeon Hee YH; Lee, Jeong Eon JE; Lee, Kwang Hyuk KH; Kim, Hee Cheol HC; Kim, Kyoung-Mee KM; Im, Young-Hyuck YH; Park, Keunchil K; Park, Peter J PJ; Park, Woong-Yang WY
Publication Date: 2017-11-09

Variant appearance in text: JAK2: R683T
PubMed Link: 29123093
Variant Present in the following documents:
  • 41467_2017_1470_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: JAK2: R683T
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page



Targeting substrate-site in Jak2 kinase prevents emergence of genetic resistance.

Scientific Reports
Kesarwani, Meenu M; Huber, Erika E; Kincaid, Zachary Z; Evelyn, Chris R CR; Biesiada, Jacek J; Rance, Mark M; Thapa, Mahendra B MB; Shah, Neil P NP; Meller, Jarek J; Zheng, Yi Y; Azam, Mohammad M
Publication Date: 2015-09-30

Variant appearance in text: JAK2: R683T
PubMed Link: 26419724
Variant Present in the following documents:
  • Main text
  • srep14538.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: JAK2: R683T
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



Tyrosine kinome sequencing of pediatric acute lymphoblastic leukemia: a report from the Children's Oncology Group TARGET Project.

Blood
Loh, Mignon L ML; Zhang, Jinghui J; Harvey, Richard C RC; Roberts, Kathryn K; Payne-Turner, Debbie D; Kang, Huining H; Wu, Gang G; Chen, Xiang X; Becksfort, Jared J; Edmonson, Michael M; Buetow, Kenneth H KH; Carroll, William L WL; Chen, I-Ming IM; Wood, Brent B; Borowitz, Michael J MJ; Devidas, Meenakshi M; Gerhard, Daniela S DS; Bowman, Paul P; Larsen, Eric E; Winick, Naomi N; Raetz, Elizabeth E; Smith, Malcolm M; Downing, James R JR; Willman, Cheryl L CL; Mullighan, Charles G CG; Hunger, Stephen P SP
Publication Date: 2013-01-17

Variant appearance in text: JAK2: Arg683Thr
PubMed Link: 23212523
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: JAK2: R683T
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Functional screening identifies CRLF2 in precursor B-cell acute lymphoblastic leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Yoda, Akinori A; Yoda, Yuka Y; Chiaretti, Sabina S; Bar-Natan, Michal M; Mani, Kartik K; Rodig, Scott J SJ; West, Nathan N; Xiao, Yun Y; Brown, Jennifer R JR; Mitsiades, Constantine C; Sattler, Martin M; Kutok, Jeffrey L JL; DeAngelo, Daniel J DJ; Wadleigh, Martha M; Piciocchi, Alfonso A; Dal Cin, Paola P; Bradner, James E JE; Griffin, James D JD; Anderson, Kenneth C KC; Stone, Richard M RM; Ritz, Jerome J; Foà, Robin R; Aster, Jon C JC; Frank, David A DA; Weinstock, David M DM
Publication Date: 2010-01-05

Variant appearance in text: JAK2: Arg683Thr
PubMed Link: 20018760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

British Journal Of Haematology
Gaikwad, Amos A; Rye, Cassia L CL; Devidas, Meenakshi M; Heerema, Nyla A NA; Carroll, Andrew J AJ; Izraeli, Shai S; Plon, Sharon E SE; Basso, Giuseppe G; Pession, Andrea A; Rabin, Karen R KR
Publication Date: 2009-03

Variant appearance in text: JAK2: R683T
PubMed Link: 19120350
Variant Present in the following documents:
  • Main text
View BVdb publication page